A survey of copy-number variation detection tools based on high-throughput sequencing data

Curr Protoc Hum Genet. 2012 Oct:Chapter 7:Unit7.19. doi: 10.1002/0471142905.hg0719s75.

Abstract

Copy-number variation (CNV) is a major class of genomic variation with potentially important functional consequences in both normal and diseased populations. Remarkable advances in development of next-generation sequencing (NGS) platforms provide an unprecedented opportunity for accurate, high-resolution characterization of CNVs. In this unit, we give an overview of available computational tools for detection of CNVs and discuss comparative advantages and disadvantages of different approaches.

MeSH terms

  • Algorithms
  • Computational Biology / methods
  • DNA Copy Number Variations*
  • Genomics / methods*
  • High-Throughput Nucleotide Sequencing*
  • Internet